Chromophobe renal cell carcinoma
Type of disease: Rare conditions
Chromophobe renal cell carcinoma is a rare type of kidney cancer that develops in cells that are involved in the production of urine. Cancers form when a change (mutation) in DNA causes certain cells to grow out of control, sometimes forming a lump or a tumor. Some of these cancerous cells can break off and spread to other parts of the body where they will continue to grow (metastasis).
Chromophobe renal cell carcinoma usually occurs in adults between the ages of 40 and 60, although it can appear in all age groups. This type of carcinoma is associated with Birt-Hogg-Dubé syndrome, an inherited disorder caused by a mutation in the FLCN gene. The FLCN gene is involved in regulating cell growth, and a mutation in this gene can cause cells to grow out of control. This situation places affected individuals at higher risk of developing chromophobe renal cell carcinoma as well as noncancerous growths in the kidneys, lungs, and hair follicles.
Common symptoms include the presence of blood in the urine, pain in the back or side of the abdomen, and fatigue. Other signs include abdominal swelling or the presence of a lump in the abdominal area, which may or may not be painful. Diagnosis is usually made with a combination of a physical exam, imaging studies, blood tests, and other laboratory studies. Diagnosis may require a doctor to take a biopsy, or sample, of the tissue to look at under a microscope in order to determine if the cells are growing in an abnormal way.
Treatment may involve surgery, but treatment plans will vary based on many factors such as how large the tumor is and if it has spread to other structures. If you or a family member has been diagnosed with chromophobe renal cell carcinoma, talk to your doctor about the most current treatment options. Support groups are also available for more resources and information. Meeting with a genetic counselor may also be helpful to better understand the inherited causes of this condition.